CFTR c.2134_2136delinsGAG ;(p.S712E)

Variant ID: 7-117232355-TCC-GAG

NM_000492.3(CFTR):c.2134_2136delinsGAG;(p.S712E)

This variant was identified in 1 publication

View GRCh38 version.



Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP

Publications:

The non-hydrolytic pathway of cystic fibrosis transmembrane conductance regulator ion channel gating.

The Journal Of Physiology
Aleksandrov, A A AA; Chang, X X; Aleksandrov, L L; Riordan, J R JR
Publication Date: 2000-10-15

Variant appearance in text: CFTR: S712E
PubMed Link: 11034616
Variant Present in the following documents:
  • Main text
View BVdb publication page